ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)

gnomAD frequency: 0.00004  dbSNP: rs780658554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248736 SCV002519401 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003105928 SCV003781073 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-11-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 433112). This missense change has been observed in individual(s) with clinical features of SPTAN1-related conditions (PMID: 29358611). This variant is present in population databases (rs780658554, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 742 of the SPTAN1 protein (p.Arg742Cys). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656022 SCV000588298 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 flagged submission case-control CAADphred>15

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